Canonical Allele Identifier: CA2609914052

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80280428-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280428T>C , CM000672.2:g.80280428T>C	GRCh38
NC_000010.10:g.82040184T>C , CM000672.1:g.82040184T>C	GRCh37
NC_000010.9:g.82030164T>C	NCBI36
NG_008083.1:g.14251A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.406-112A>G MANE Select	ENSP00000361287.3:n.406-112A>G
ENST00000372213.7:c.406-112A>G	ENSP00000361287.3:n.406-112A>G
ENST00000455001.1:c.217-112A>G	ENSP00000414961.1:n.217-112A>G
NM_000429.2:c.406-112A>G	NP_000420.1:n.406-112A>G
XM_005269842.3:c.406-112A>G	XP_005269899.1:n.406-112A>G
XM_005269843.3:c.283-112A>G	XP_005269900.1:n.283-112A>G
NM_000429.3:c.406-112A>G MANE Select	NP_000420.1:n.406-112A>G